Karvonen S L, Kallioinen M, Ylä-Outinen H, Pöyhönen M, Oikarinen A, Peltonen J
Department of Dermatology, University Hospital of Oulu, FIN-90220 Oulu, Finland.
Arch Dermatol. 2000 Oct;136(10):1207-9. doi: 10.1001/archderm.136.10.1207.
Neurofibromas represent proliferation of the connective tissue cells of peripheral nerves and deposition of collagenous extracellular matrix. There is evidence that the appearance and growth of neurofibromas may be associated with prior or ongoing mechanical trauma in patients with neurofibromatosis type 1 (NF1).
To study the histologic characteristics of apparently healthy skin of patients with NF1.
The histologic features of healthy-looking skin of patients with NF1 were analyzed.
University hospital.
Ten patients who fulfilled the criteria for NF1.
Punch biopsy specimens of healthy-looking skin of the forearm from 9 volunteer patients and of the upper eyelid during cosmetic operation from 1 volunteer patient were obtained.
The main outcomes were not predicted, and the hypothesis was formulated during data collection.
Apparently unaffected skin of 5 patients with NF1 was studied by routine histologic testing with respect to expression of S100 protein. Unexpectedly, analysis of the samples revealed the presence of a small neurofibroma tumor in one of the samples. The tumor was located in deep dermis around a hair follicle. In addition, neurofibromatous tissue not large enough to be called a tumor was found on the same anatomical location in another patient. In further studies, 10 punch biopsy specimens of apparently healthy skin from patients with NF1 were similarly sectioned and analyzed. No tumors were found in these additional samples. In 4 patients, however, abundant S100 protein-positive cells were located within collagenous extracellular matrix surrounding hair follicles.
The skin of patients with NF1 might be more widely affected than previously thought and occult neurofibromas are not rare.
神经纤维瘤代表周围神经结缔组织细胞的增殖以及胶原细胞外基质的沉积。有证据表明，1型神经纤维瘤病（NF1）患者神经纤维瘤的出现和生长可能与先前或正在发生的机械性创伤有关。
研究NF1患者外观正常皮肤的组织学特征。
分析NF1患者外观健康皮肤的组织学特征。
大学医院。
10例符合NF1标准的患者。
获取9例志愿患者前臂外观健康皮肤的打孔活检标本，以及1例志愿患者在美容手术期间上睑的打孔活检标本。
主要观察指标未作预测，假设在数据收集过程中形成。
对5例NF1患者外观未受影响的皮肤进行常规组织学检测，以检测S100蛋白的表达。出乎意料的是，样本分析显示其中一个样本中存在一个小神经纤维瘤肿瘤。该肿瘤位于毛囊周围的真皮深层。此外，在另一例患者的相同解剖位置发现了大小不足以称为肿瘤的神经纤维瘤组织。在进一步研究中，对10例NF1患者外观健康皮肤的打孔活检标本进行同样的切片和分析。在这些额外的样本中未发现肿瘤。然而，在4例患者中，毛囊周围的胶原细胞外基质内有大量S100蛋白阳性细胞。
NF1患者的皮肤受累范围可能比先前认为的更广，隐匿性神经纤维瘤并不罕见。
